نتایج جستجو برای: syndromic deafness
تعداد نتایج: 13200 فیلتر نتایج به سال:
Deafness is inherited most commonly following autosomal recessive mode of inheritance as isolated clinical finding .Genetic and clinical heterogeneity of disorder prevent pooling of affected families and is a big barrier in gene mapping by conventional techniques. However, because of consanguinity, linkage analysis can be used to find disease causing loci /genes in small nuclear families. This ...
BACKGROUND Non-syndromic hearing loss (NSHL) is the most common birth defect and occurs in approximately 1/1,000 newborns. NSHL is a heterogeneous trait and can arise due to both genetic and environmental factors. Mutations of the transmembrane channel-like 1 (TMC1) gene cause non-syndromic deafness in humans and mice. OBJECTIVES The aim of the present study was to investigate the association...
OBJECTIVES (1) To determine the feasibility of the use of a modified postural control test under altered sensory conditions in children over 8 years of age, and (2) to assess how deaf children use sensory information for postural control when they have normal or abnormal vestibular responses, and if hearing input from a unilateral cochlear implant, changes their postural behavior. PATIENTS We...
H earing impairment is a common and highly heterogeneous sensory disorder. Genetic causes are thought to be responsible for more than 60% of the cases in developed countries. In the majority of cases, non-syndromic hearing impairment is inherited in an autosomal recessive pattern. Thirty eight different loci and 20 genes for autosomal recessive non-syndromic hearing impairment (ARNSHI) have bee...
Congenital hearing loss has been documented to occur in 1 of 1000 live births, with over half of these cases predicted to be hereditary in nature. 2 Most hereditary hearing loss is inherited in a recessive manner, accounting for approximately 85% of non-syndromic hearing loss (NSHL). Deafness is an extremely genetically heterogeneous disorder, shown by the fact that 33 loci for recessive NSHL a...
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